Phenotype #0000125180

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00102376
Associated disease	MDC
Phenotype details	elevated serum creatine phosphokinase (HP:0003236), Abnormality of the cerebral white matter (HP:0002500)
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Familial, autosomal recessive
Age/Examination	00y03m (3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Tom Winder
Database submission license	No license selected
Created by	Tom Winder
Date created	2009-07-17 16:42:46 +02:00 (CEST)
Date last edited	2017-10-07 15:14:17 +02:00 (CEST)

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